Xq28 population region (gnomAD-SV_v2.1_DEL_X_190749)

  • 40
    Haplo
    Score
  • 0
    Triplo
    Score

Region Facts

Region Name
Xq28 population region (gnomAD-SV_v2.1_DEL_X_190749)
Cytoband
Xq28
Genomic Coordinates
GRCh37/hg19 chrX:153511999-153522000 NCBI Ensembl UCSC
GRCh38/hg38 chrX:154246526-154256527 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Region)

Dosage ID:
ISCA-46549
Curation Status:
Complete
Issue Type:
Dosage Curation - Region
Description:
SVTYPE=DEL GENES=TEX28 COPY_GAIN=NA GNOMAD AF=0.738461971 ORIGIN=gnomad_v2.1_sv.sites (May 1, 2021) GNOMAD URL=https://gnomad.broadinstitute.org/variant/DEL_X_190749?dataset=gnomad_sv_r2_1
Breakpoint Type:
Variable
Haploinsufficiency:
Dosage Sensitivity Unlikely (40)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
gnomAD Allele Frequency:
0.738461971
Last Evaluated:
08/03/2021

Haploinsufficiency (HI) Score Details

HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
HI Evidence Comments:
As part of an effort to identify genomic regions that are unlikely to be dosage sensitive, ClinGen queried the gnomAD structural variant (SV) v2.1 data set (PMID: 32461652) for variants meeting the following criteria: passed gnomAD quality filters, characterized as either a deletion or duplication, >1kb in size, includes at least one gene, and present at an allele frequency of >5% (with at least 2000 alleles tested). This region corresponds to a variant identified as meeting these criteria in gnomAD-SV v2.1; the gnomAD identifier for this variant is reflected in the title for reference. As of May 1st, 2021, there has been no reported relationship between the gene(s) included in this region and human disease. Given the high population frequency, this region has been classified as “dosage sensitivity unlikely.”
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)